S81N (p.Ser81Asn) variant of CREBBP (CREB-binding protein)
S81N (p.Ser81Asn) in CREBBP (CREB-binding protein) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes structural context.
S81N (p.Ser81Asn) variant details
- p.Ser81Asn
- rs372793936
- ClinGen CA276987541
- ClinVar RCV001761064
- TOPMed rs372793936
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.413
- AlphaMissense 0.12
- MetaLR 0.26
- MetaSVM -0.91
- PolyPhen-2 0.16
- SIFT 1.00
- MutPred 0.17
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available